BMJ 1999;318:81-85 ( 9 January )

Papers

Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study

Editorial by Mol

Jon Hyett, research fellow, a Marc Perdu, research fellow, a Gurleen Sharland, senior lecturer, b Rosalinde Snijders, lecturer, a Kypros H Nicolaides, professor. a

a Harris Birthright Research Centre for Fetal Medicine, Department of Obstetrics and Gynaecology, King's College Hospital Medical School, London SE5 8RX, b Fetal Cardiology Unit, Guy's Hospital, London SE1 9RT

Correspondence to: Professor Nicolaides

Objectives: To examine the utility of measuring fetal nuchal translucency thickness in screening for major defects of the heart and great arteries at 10-14 weeks of gestation.
Design: Population based cohort study.
Subjects: 29 154 singleton pregnancies with chromosomally normal fetuses at 10-14 weeks of gestation.
Setting: Fetal medicine centre in London.
Main outcome measure: Prevalence of major defects of the heart and great arteries.
Results: Of 50 cases with major defects of the heart and great arteries (prevalence 1.7 per 1000 pregnancies) 28 (56%, 95% confidence interval 42% to 70%) were in the subgroup of 1822 pregnancies with fetal nuchal translucency thicknesses above the 95th centile of the normal range. The positive and negative predictive values for this cut off point of nuchal translucency thickness were 1.5% and 99.9% respectively.
Conclusions: Measurement of fetal nuchal translucency thickness---traditionally used to identify fetuses at high risk of aneuploidy---at 10-14 weeks of gestation can identify a large proportion of fetuses with major defects of the heart and great arteries.

Key messages

  • The majority of congenital abnormalities of the heart and great arteries are associated with subcutaneous oedema in the neck region at 10-14 weeks of gestation

  • Subcutaneous oedema in the neck region can be visualised by ultrasonography as increased nuchal translucency thickness

  • The prevalence of major defects of the heart and great arteries increases with increasing fetal nuchal translucency thickness at 10-14 weeks of gestation

  • Measurement of fetal nuchal translucency thickness at 10-14 weeks of gestation is a sensitive method of screening for major defects of the heart and great arteries




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